German Society of Oto-Rhino-Laryngology, Head and Neck Surgery.
78th Annual Meeting of the German Society of Oto-Rhino-Laryngology, Head and Neck Surgery.
Munich,
16.-20.05.2007.
DÃ¼sseldorf, KÃ¶ln: German Medical Science; 2007. Doc07hno114

Outline

Introduction: Maffucci Syndrome is congenital, non hereditary, mesoderm tissue dysplasia that is characteristically located in the extremities. The disease is characterized by embryonal connective tissue neoplasms, enchondroma with bone deformations and multiple soft tissue haemangioma. An involvement of the skull base and the cervical spine is an exception. In the following the progressive course of a 27 year old female patient with Maffucci Syndrome is described.

Case report: At the age of 6 years an asymptomatic swelling anterior to the right ear was seen. Recurring meningitis at the age of 2-3 years have been explained as a consequence of otitis of the middle ear. The therapy consisted of systemic antibiosis and paracentesis. At the age of 11 years meningitis in combination with rhinootoliquorrhea occurred for the first time. A revision of the oto- and rhinobase confirmed the clinical and radiological suspicion of Maffucci Syndrome by histological examination. Progressive destruction of the skull base resulted in focal seizures, deprivation of vision, enophtalmos on the right side and dislocation of the cerebellum caudally. The cervical spine destruction was stabilized by compression osteosynthesis. Recurring cerebrospinal fluid fistulas have been covered by ENT- and Neurosurgical approaches. Persisting rhinootoliquorrhea at the age of 26 years could not be managed surgically. In cause of progressive decline of the general condition a tracheotomy has been performed followed by palliative care in a nursing home.

Summary: Maffucci's Syndrome is a rare cause for rhinootoliquorrhea. The therapy of choice includes total resection oft the local findings. An affection of vital structures restricts the possibilities of a surgical approach.